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Avascular necrosis of femoral head, primary, 1(ANFH1)

MedGen UID:
1639295
•Concept ID:
C4551562
•
Disease or Syndrome
Synonyms: ANFH1; Avascular necrosis of femoral head, primary
 
Gene (location): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0054550
OMIM®: 608805

Definition

Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). Genetic Heterogeneity of Primary Avascular Necrosis of the Femoral Head ANFH2 is caused by mutation in the TRPV4 gene (605427) on chromosome 12q24. Mutation in COL2A1 has also been found in Legg-Calves-Perthes disease (LCPD; 150600), a form of ANFH in growing children. [from OMIM]

Clinical features

From HPO
Groin pain
MedGen UID:
536927
•Concept ID:
C0239783
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.
See: Feature record | Search on this feature
Hip pain
MedGen UID:
1643075
•Concept ID:
C4551516
•
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
See: Feature record | Search on this feature
Legg-Calve-Perthes disease
MedGen UID:
730669
•Concept ID:
C1442965
•
Disease or Syndrome
Legg-Calve-Perthes disease (LCPD) is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. The disease occurs more frequently in boys, and most patients tend to be shorter than their peers. Both familial and isolated cases of LCPD have been reported (summary by Chen et al., 2004).
See: Feature record | Search on this feature
Generalized osteoporosis
MedGen UID:
1639139
•Concept ID:
C4551680
•
Disease or Syndrome
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

ACR Appropriateness Criteria® Osteonecrosis: 2022 Update.
Expert Panel on Musculoskeletal Imaging, Ha AS, Chang EY, Bartolotta RJ, Bucknor MD, Chen KC, Ellis HB Jr, Flug J, Leschied JR, Ross AB, Sharma A, Thomas JM, Beaman FD
J Am Coll Radiol 2022 Nov;19(11S):S409-S416. doi: 10.1016/j.jacr.2022.09.009. PMID: 36436966
Tenth European Consensus Conference on Hyperbaric Medicine: recommendations for accepted and non-accepted clinical indications and practice of hyperbaric oxygen treatment.
Mathieu D, Marroni A, Kot J
Diving Hyperb Med 2017 Mar;47(1):24-32. doi: 10.28920/dhm47.1.24-32. PMID: 28357821Free PMC Article
Medical management of osteonecrosis of the hip: a review.
Rajpura A, Wright AC, Board TN
Hip Int 2011 Jul-Aug;21(4):385-92. doi: 10.5301/HIP.2011.8538. PMID: 21786259

Recent clinical studies

Etiology

Accumulation of Fat Not Responsible for Femoral Head Necrosis, Revealed by Single-Cell RNA Sequencing: A Preliminary Study.
Wang Y, Li D, Chen H, Li Z, Feng B, Weng X
Biomolecules 2023 Jan 13;13(1) doi: 10.3390/biom13010171. PMID: 36671556Free PMC Article
Avascular Necrosis of Femoral Head-Overview and Current State of the Art.
Konarski W, Poboży T, Śliwczyński A, Kotela I, Krakowiak J, Hordowicz M, Kotela A
Int J Environ Res Public Health 2022 Jun 15;19(12) doi: 10.3390/ijerph19127348. PMID: 35742595Free PMC Article
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621
Radiation-induced femoral head necrosis.
Abdulkareem IH
Niger J Clin Pract 2013 Jan-Mar;16(1):123-6. doi: 10.4103/1119-3077.106787. PMID: 23377487
Osteonecrosis of the femoral head.
Babis GC, Sakellariou V, Parvizi J, Soucacos P
Orthopedics 2011 Jan;34(1):39. doi: 10.3928/01477447-20101123-19. PMID: 21210589

Diagnosis

Femoral head avascular necrosis in COVID-19 survivors: a systematic review.
Hassan AAA, Khalifa AA
Rheumatol Int 2023 Sep;43(9):1583-1595. Epub 2023 Jun 20 doi: 10.1007/s00296-023-05373-8. PMID: 37338665Free PMC Article
Accumulation of Fat Not Responsible for Femoral Head Necrosis, Revealed by Single-Cell RNA Sequencing: A Preliminary Study.
Wang Y, Li D, Chen H, Li Z, Feng B, Weng X
Biomolecules 2023 Jan 13;13(1) doi: 10.3390/biom13010171. PMID: 36671556Free PMC Article
Avascular Necrosis of Femoral Head-Overview and Current State of the Art.
Konarski W, Poboży T, Śliwczyński A, Kotela I, Krakowiak J, Hordowicz M, Kotela A
Int J Environ Res Public Health 2022 Jun 15;19(12) doi: 10.3390/ijerph19127348. PMID: 35742595Free PMC Article
Osteonecrosis of the femoral head associated with pigmented villonodular synovitis.
Baba S, Motomura G, Fukushi J, Ikemura S, Sonoda K, Kubo Y, Utsunomiya T, Hatanaka H, Nakashima Y
Rheumatol Int 2017 May;37(5):841-845. Epub 2016 Dec 7 doi: 10.1007/s00296-016-3624-y. PMID: 27928593
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621

Therapy

Osteotomies for avascular necrosis of the femoral head.
Quaranta M, Miranda L, Oliva F, Aletto C, Maffulli N
Br Med Bull 2021 Mar 25;137(1):98-111. doi: 10.1093/bmb/ldaa044. PMID: 33454780
Steroid-induced osteonecrosis of the femoral head reveals enhanced reactive oxygen species and hyperactive osteoclasts.
Chen K, Liu Y, He J, Pavlos N, Wang C, Kenny J, Yuan J, Zhang Q, Xu J, He W
Int J Biol Sci 2020;16(11):1888-1900. Epub 2020 Apr 6 doi: 10.7150/ijbs.40917. PMID: 32398957Free PMC Article
Role of coagulopathy in glucocorticoid-induced osteonecrosis of the femoral head.
Zhang Q, L V J, Jin L
J Int Med Res 2018 Jun;46(6):2141-2148. Epub 2017 May 1 doi: 10.1177/0300060517700299. PMID: 28459353Free PMC Article
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621
Osteonecrosis of the femoral head.
Babis GC, Sakellariou V, Parvizi J, Soucacos P
Orthopedics 2011 Jan;34(1):39. doi: 10.3928/01477447-20101123-19. PMID: 21210589

Prognosis

Legg-Calvé-Perthes disease overview.
Rodríguez-Olivas AO, Hernández-Zamora E, Reyes-Maldonado E
Orphanet J Rare Dis 2022 Mar 15;17(1):125. doi: 10.1186/s13023-022-02275-z. PMID: 35292045Free PMC Article
Management and radiographic outcomes of femoral head fractures.
Scolaro JA, Marecek G, Firoozabadi R, Krieg JC, Routt MLC
J Orthop Traumatol 2017 Sep;18(3):235-241. Epub 2017 Feb 10 doi: 10.1007/s10195-017-0445-z. PMID: 28188487Free PMC Article
Complications following young femoral neck fractures.
Slobogean GP, Sprague SA, Scott T, Bhandari M
Injury 2015 Mar;46(3):484-91. Epub 2014 Oct 31 doi: 10.1016/j.injury.2014.10.010. PMID: 25480307
Radiation-induced femoral head necrosis.
Abdulkareem IH
Niger J Clin Pract 2013 Jan-Mar;16(1):123-6. doi: 10.4103/1119-3077.106787. PMID: 23377487
Early prediction of femoral head avascular necrosis following neck fracture.
Ehlinger M, Moser T, Adam P, Bierry G, Gangi A, de Mathelin M, Bonnomet F
Orthop Traumatol Surg Res 2011 Feb;97(1):79-88. Epub 2010 Nov 18 doi: 10.1016/j.otsr.2010.06.014. PMID: 21087905

Clinical prediction guides

The efficacy of Denosumab in the treatment of femoral head osteonecrosis: a retrospective comparative study.
Moon JK, Park J, Yoo Y, Yoon JY, Lee S, Yoon PW
Sci Rep 2024 Feb 20;14(1):4140. doi: 10.1038/s41598-024-54685-7. PMID: 38374383Free PMC Article
Methods to predict osteonecrosis of femoral head after femoral neck fracture: a systematic review of the literature.
Hu Y, Yang Q, Zhang J, Peng Y, Guang Q, Li K
J Orthop Surg Res 2023 May 22;18(1):377. doi: 10.1186/s13018-023-03858-7. PMID: 37217998Free PMC Article
Osteotomies for avascular necrosis of the femoral head.
Quaranta M, Miranda L, Oliva F, Aletto C, Maffulli N
Br Med Bull 2021 Mar 25;137(1):98-111. doi: 10.1093/bmb/ldaa044. PMID: 33454780
Complications following young femoral neck fractures.
Slobogean GP, Sprague SA, Scott T, Bhandari M
Injury 2015 Mar;46(3):484-91. Epub 2014 Oct 31 doi: 10.1016/j.injury.2014.10.010. PMID: 25480307
Early prediction of femoral head avascular necrosis following neck fracture.
Ehlinger M, Moser T, Adam P, Bierry G, Gangi A, de Mathelin M, Bonnomet F
Orthop Traumatol Surg Res 2011 Feb;97(1):79-88. Epub 2010 Nov 18 doi: 10.1016/j.otsr.2010.06.014. PMID: 21087905

Recent systematic reviews

Femoral head avascular necrosis in COVID-19 survivors: a systematic review.
Hassan AAA, Khalifa AA
Rheumatol Int 2023 Sep;43(9):1583-1595. Epub 2023 Jun 20 doi: 10.1007/s00296-023-05373-8. PMID: 37338665Free PMC Article
Osteotomies for avascular necrosis of the femoral head.
Quaranta M, Miranda L, Oliva F, Aletto C, Maffulli N
Br Med Bull 2021 Mar 25;137(1):98-111. doi: 10.1093/bmb/ldaa044. PMID: 33454780
Tenth European Consensus Conference on Hyperbaric Medicine: recommendations for accepted and non-accepted clinical indications and practice of hyperbaric oxygen treatment.
Mathieu D, Marroni A, Kot J
Diving Hyperb Med 2017 Mar;47(1):24-32. doi: 10.28920/dhm47.1.24-32. PMID: 28357821Free PMC Article
S3-Guideline non-traumatic adult femoral head necrosis.
Roth A, Beckmann J, Bohndorf K, Fischer A, Heiß C, Kenn W, Jäger M, Maus U, Nöth U, Peters KM, Rader C, Reppenhagen S, Smolenski U, Tingart M, Kopp I, Sirotin I, Breusch SJ
Arch Orthop Trauma Surg 2016 Feb;136(2):165-74. Epub 2015 Dec 14 doi: 10.1007/s00402-015-2375-7. PMID: 26667621
Diagnostic accuracy of clinical tests of the hip: a systematic review with meta-analysis.
Reiman MP, Goode AP, Hegedus EJ, Cook CE, Wright AA
Br J Sports Med 2013 Sep;47(14):893-902. Epub 2012 Jul 7 doi: 10.1136/bjsports-2012-091035. PMID: 22773321

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